Table of Contents
Publication date: December 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 16, 2020 Category: Genetics & Stem Cells Source Type: research
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Publication date: Available online 15 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Praveena Narayanan, Pramod K. Mistry, Manisha Balwani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 16, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): Mirco Dindo, Giorgia Mandrile, Carolina Conter, Rosa Montone, Daniela Giachino, Alessandra Pelle, Claudio Costantini, Barbara Cellini (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism
Publication date: Available online 15 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Trevor O. Kirby, Javier Ochoa-Reparaz, Jean-Baptiste Roullet, K. Michael Gibson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: November 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 10, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: November 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 10, 2020 Category: Genetics & Stem Cells Source Type: research
Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)
Publication date: Available online 5 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Hayley E. Clocksin, Zoë W. Hawks, Desirée A. White, Shawn E. Christ (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 6, 2020 Category: Genetics & Stem Cells Source Type: research
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis
Publication date: Available online 3 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Jitka Majovska, Igor Nestrasil, Amy Paulson, David Nascene, Katarina Jurickova, Anna Hlavata, Troy Lund, Paul J. Orchard, Manuela Vaneckova, Jiri Zeman, Martin Magner, Petr Dusek (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 4, 2020 Category: Genetics & Stem Cells Source Type: research
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia
Publication date: Available online 28 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Pierre-Hadrien Becker, Zeynep Demir, Yael Mozer Glassberg, Caroline Sevin, Dalila Habes, Apolline Imbard, Charlotte Mussini, Michal Rozenfeld Bar Lev, Anne Davit-Spraul, Jean-François Benoist, Patrice Thérond, Abdelhamid Slama, Emmanuel Jacquemin, Emmanuel Gonzales, Pauline Gaignard (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 28, 2020 Category: Genetics & Stem Cells Source Type: research
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, Dani Ungar, Tamas Kozicz, Eric Klee, Laura M. Rust, Myra Wick, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 27, 2020 Category: Genetics & Stem Cells Source Type: research
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype
Publication date: Available online 24 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Kimberly A. Kripps, Marisa W. Friedrich, Ting Chen, Austin A. Larson, David M. Mirsky, Yue Wang, Kurenai Tanji, Kaz M. Knight, Lee-Jun Wong, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 24, 2020 Category: Genetics & Stem Cells Source Type: research
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Publication date: Available online 18 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Rohini Sidhu, Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Ngoc Dang Do, Forbes D. Porter, Elizabeth Berry-Kravis, Janine Reunert, Thorsten Marquardt, Roberto Giugliani, Charles M. Lourenço, Raymond Y. Wang, Nina Movsesyan, Ellen Plummer, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 18, 2020 Category: Genetics & Stem Cells Source Type: research
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
Publication date: Available online 18 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Francesca Manzoni, Elisabetta Salvatici, Alberto Burlina, Ashley Andrews, Marzia Pasquali, Nicola Longo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 18, 2020 Category: Genetics & Stem Cells Source Type: research
